Soft Tissue and Bone Tumors

A sarcoma rarely causes symptoms in the early stages. The first sign of a sarcoma in an arm, leg, or trunk may be a painless lump or swelling. Most lumps are not sarcomas.

The most common soft tissue lumps are lipomas. Lipomas are made up of fat cells and are not cancer. Lipomas rarely change in size. In the uterus, benign tumors called fibroids (leiomyomas) far outnumber sarcomas, but uterine sarcomas are sometimes mistaken for benign fibroids.

However, it is important to talk to your doctor about any lumps that are larger than 2 inches (5 cm), are growing, or are painful, regardless of their location. People with sarcoma that starts in the abdomen may have no symptoms, or they may have pain or a feeling of fullness.

Because sarcoma can grow in flexible, elastic tissues or deep within the body, the tumor can often push and compress normal tissue as it grows. Therefore, a sarcoma can grow quite large before causing symptoms. Eventually, it can cause pain as the growing tumor begins to press on nerves and muscles.
Sarcomas that start in other parts of the body may cause other symptoms. For example, sarcomas in the uterus may cause uterine bleeding or an increase in the size of the uterus. Tumors that start in the heart or lung may cause breathing problems or chest pain.

If you are concerned about any changes you are experiencing, talk to your doctor. Your doctor will ask you questions about, among other things, how long and how often you have been experiencing symptoms. This is to help figure out the cause of the problem, which is called a diagnosis.

If a sarcoma is diagnosed, symptom relief remains an important part of cancer care and treatment. This is called palliative care or supportive care. It often begins soon after diagnosis and continues throughout treatment.

Be sure to talk to your healthcare team about the symptoms you are experiencing, including any new symptoms or changes in symptoms.

The diagnosis of sarcoma is made by a combination of a clinical examination by the clinician and imaging tests. It is also confirmed by the results of a biopsy. In addition to the physical examination, some of the tests described below can be used to diagnose sarcoma.

Imaging tests
Both benign and cancerous tumors can be seen on imaging tests, such as an X-ray. The radiologist will evaluate how the tumor looks on the test to determine whether it may be benign or cancerous. However, a biopsy is almost always needed.

X-ray. An X-ray is a way to create a picture of structures inside the body using a small amount of radiation. X-rays are especially useful for bone sarcomas but less valuable for soft tissue sarcomas.

Ultrasound. An ultrasound uses sound waves to create an image and can be used to examine lumps under the skin or other organs in the body.
Computed tomography (CT) scan. A CT scan takes pictures of the inside of the body using X-rays taken from different angles. A computer combines these images into a detailed, 3-D image that shows any abnormalities or tumors. A CT scan can be used to measure the size of a tumor or to see if cancer has spread elsewhere. Sometimes, a special dye called a contrast agent is given before the scan to provide better detail in the image. This dye may be injected into the patient’s vein and/or be a pill or liquid that the patient must drink.

Magnetic resonance imaging (MRI). An MRI uses magnetic fields, not X-rays, to produce detailed images of the body. An MRI can be used to measure the size of a tumor. A special dye called a contrast agent is given before the scan to create a clearer image. This dye can be injected into the patient’s vein. An MRI is often used to determine whether a sarcoma can be removed with surgery.

Positron emission tomography (PET) or PET-CT scan. A PET scan is usually combined with a CT scan (see above), called a PET-CT scan. A PET scan is a way to create images of organs and tissues inside the body. A small amount of a radioactive sugar substance is injected into the patient’s body. This sugar substance is taken up by cells that use the most energy. Because cancer tends to actively use energy, it absorbs more of the radioactive substance. A scanner then detects this substance to produce images of the inside of the body. This technique can be used to look at both the structure of the tumor and how much energy is being used by the tumor and normal tissues. This information can be useful for planning treatment and assessing how well the treatment is working.

Biopsy and tissue tests
Imaging tests may suggest sarcoma, but a biopsy will be needed to confirm the diagnosis and identify the type of sarcoma.

Biopsy
A biopsy is the removal of a small amount of tissue for examination under a microscope. Other tests may suggest that cancer is present, but only a biopsy can make a reliable diagnosis. A pathologist is a doctor who specializes in interpreting laboratory tests and evaluating cells, tissues, and organs to diagnose disease.

Because sarcomas are rare, a specialist pathologist will need to re-examine the tissue sample to correctly diagnose a sarcoma. Sometimes correctly diagnosing a sarcoma requires special tests on the tumor tissue, and this is best done by a specialist who regularly studies this type of cancer.
There are different types of biopsies.

For a needle biopsy, a doctor removes a small sample of tissue from the tumor with a needle-like tool – usually a core biopsy. This may be done with the help of ultrasound, CT scan, or MRI to precisely guide the needle into the tumor.

In an incisional biopsy, a surgeon cuts out the tumor and removes a sample of tissue.

In an excisional biopsy, the surgeon removes the entire tumor. Excisional biopsies are generally not recommended for sarcomas because the risk of local recurrence is very high and second surgeries are often needed to completely remove the tumor. Recurrence is when the cancer comes back after treatment.

The type of biopsy and how it is done are important in the diagnosis and treatment of sarcomas. Patients should visit a specialized sarcoma center before the biopsy is performed so that the treating surgeon can identify the biopsy site. It is important to have a specialist pathologist review the tissue sample that was removed to properly diagnose a sarcoma.
Your doctor or the pathologist examining the sarcoma may recommend laboratory tests on a tumor sample to identify specific genes, proteins, and other factors.

Surgery
Surgery is the removal of the tumor as well as surrounding healthy tissue. Before surgery, it is important to have a biopsy and appropriate imaging tests to confirm the diagnosis (see Diagnosis). After a biopsy, surgery is usually an important part of the treatment plan if the tumor is localized (found in only 1 area). Surgical oncologists and orthopedic oncologists are doctors who specialize in treating sarcomas with surgery.

The surgeon’s goal is to remove the tumor and enough normal tissue surrounding it to obtain a clear margin around the tumor. A “clear margin/clean surgical margin” means that there are no tumor cells visible at the edges of the surgical specimen.

This is currently the best method available to ensure that no tumor cells remain in the area from which the tumor was removed.

Small, low-grade sarcomas can usually be effectively removed with surgery alone. Those that are high-grade and larger than 5 cm are often treated with a combination of surgery and radiation therapy.

Radiation therapy or chemotherapy may be used before surgery to shrink the tumor and make it easier to remove. They may also be used during or after surgery to destroy any remaining cancer cells.

Rarely, for patients with a very large tumor that is invading the major nerves and blood vessels of the arm or leg, surgical removal of the limb, called amputation, is required. This may also be necessary if the tumor grows back in the arm or leg after surgery, radiation therapy, and/or chemotherapy have been completed.

Radiation therapy
Radiation therapy is the use of high-energy X-rays or other particles to destroy cancer cells. A doctor who specializes in administering radiation therapy to treat cancer is called a radiation therapist.

Radiation therapy may be given before surgery to shrink the tumor so it can be removed more easily. Or it may be given after surgery to destroy any cancer cells left behind.

Chemotherapy
Chemotherapy is medicine that stops cancer cells from growing, dividing, and making more cells. Cancer cells grow and divide faster than normal cells. However, normal cells also grow and divide, so the side effects of chemotherapy are due to the effects of the treatment on normal cells that are growing and dividing.

A chemotherapy regimen, or schedule, usually consists of a specific number of cycles given over a set period of time. A patient may receive 1 drug at a time or a combination of different drugs given at the same time.

In some cases, a specific drug or drugs are used only for a specific type of sarcoma.

For example, some types of sarcomas may be treated with chemotherapy before surgery to make it easier to remove the tumor. Chemotherapy given before surgery may be called preoperative chemotherapy, neoadjuvant chemotherapy, or induction chemotherapy.

Targeted therapy
Targeted therapy is a treatment that targets specific genes, proteins, or the environment of cancer tissues that contribute to the growth and survival of the cancer, usually by inhibiting the action of proteins in cells called kinases. This type of treatment prevents the growth and spread of cancer cells and limits damage to healthy cells.

Not all tumors have the same targets. To find the most effective treatment, your doctor may perform tests to identify the genes, proteins, and other factors in your tumor. This helps doctors better match each patient with the most effective treatment whenever possible. In addition, research studies continue to discover more about specific molecular targets and new treatments that target them.

Tumor-agnostic therapies

A small percentage of sarcomas, less than 1%, have a rearrangement in the neurotrophic receptor tyrosine kinase (NTRK) gene. Larotrectinib (Vitrakvi) and entrectinib (Rozlytrek) are NTRK inhibitors that are approved for any cancer that has a specific rearrangement in the NTRK gene.

Immunotherapy
Immunotherapy, also called biological therapy, is designed to boost the body’s natural defenses to fight cancer. It uses materials made either by the body or in a laboratory to improve, target, or restore the function of the immune system.

Immunotherapy is generally not approved for the treatment of sarcomas because it has not yet shown significant benefit in most sarcomas. Many recently approved immunotherapy treatments for other types of cancer include “immune checkpoint inhibitors.”

In less than 1% of sarcomas, molecular testing of a tumor may show that it has specific problems with DNA repair, called microsatellite instability-high (MSI-H) or mismatch repair deficiency (dMMR). If these problems are present, then a specific checkpoint inhibitor drug may be used. In general, checkpoint inhibitors and other immunotherapies for the treatment of sarcoma are still being studied and tested only in clinical trials.

dentification of gene rearrangements can be useful for diagnosis, disease subclassification, and treatment planning. Compared to FISH, molecular detection of rearrangements in sarcoma using next-generation sequencing (NGS) requires less tissue sample and can simultaneously test many different genetic loci.

It therefore constitutes a much broader and more cost-effective test.

The tests are performed on the surgical specimen (paraffin cubes) or the biopsy material (paraffin cube) from which your histological examination was performed or on the aspiration material (FNAB, EBUS) from which your cytological examination was performed. In our fully integrated Laboratory, the pathologist selects the most appropriate & representative paraffin cube, ensuring that the most appropriate sample will be used for the tests. Qualitative and quantitative parameters are checked.

In case your sample is not already at Microdiagnostics archive, please contact us immediately so that we can arrange for its safe and rapid transport to our laboratory. You will also need to quickly and easily complete the Consent Form.

Most of the time, the sample material we are called upon to handle is small because it has resulted from a minimally invasive method (needle biopsy, fluid aspiration, paraffin block with minimal material).

In our laboratory, Pathologists check in a timely manner whether the material to be examined is sufficient. If so, then a management algorithm is followed, with the aim of achieving the performance of multiple tests on the material (Immunohistochemistry, real-time PCR, NGS) in order to fully check the molecular profile of your tumor (proteins, genes, histological Grading).

In case your sample is not already at Microdiagnostics archive, please contact us immediately so that we can arrange for its safe and rapid transport to our laboratory. You will also need to quickly and easily complete the Consent Form.

By cash, bank card, bank deposit, or Online interbank deposit.

One of the primary concerns at Microdiagnostics is the protection of your personal data as well as the strict observance of the conditions for the protection of your genetic material and medical results.

In full compliance with the General Data Protection Regulation (GDPR), we ensure that any test conducted is done with your knowledge and consent and we do not communicate results over the phone.